AN EPIDEMIOLOGIC AND CYTOGENETIC STUDY OF RETINOBLASTOMA

在所有胚胎性肿瘤中，视网膜母细胞瘤(Rb)是最大的 阐明致病因素的机会。几种形式的RB有 每种形式与一种不同的临床模式相关联： -家族性病例约占总数的5%-10%，几乎 通常是双侧的，这种情况的后代有50%的风险发展 肿瘤；我们希望检验这样的假设，即发病率增加 在这类病例的家庭成员中，组织特异性肿瘤的发生率很高。 -遗传病例的定义是后代将有50%的概率 受影响。所有家族性病例都属于这一类， 约30%是双侧和散发性的。在未知的分数中 在这些病例中，已鉴定出13q14带的一小部分缺失。我们 假设接触能够导致亲代生殖细胞的制剂 受孕前的突变对于这些病例来说是最大的 散发性非遗传性病例或对照。所有人的带状染色体 将对患者进行检查，以使缺失病例的真实比例可以 并将其特征与非缺失病例进行比较。 -非遗传病例总是单边和零星的；我们假设 这些包括在妊娠期或出生后早期暴露。 致突变者和致畸者。 这项病例对照研究将利用大约300例RB事件病例 在四年期间确定的29个成员机构中 儿童癌症研究小组。控件将通过以下方法选择 随机数字拨号。与病例和控制措施的父母的面谈将 通过电话和收集有关家庭的信息来执行 父母和先驱的历史和暴露。风险的量化 与特定暴露相关的情况将通过对比以下情况进行 与年龄相匹配的区域人口控制。

Of all the embryonal tumors, retinoblastoma (RB) presents the greatest opportunities for elucidating etiologic factors. Several forms of RB have been described, each form associated with a distinct clinical pattern: -Familial cases comprise approximately 5-10% of the total, are almost always bilateral, and offspring of such cases have a 50% risk of developing tumor; we wish to test the hypothesis that there is an increased incidence of tissue-specific neoplasms in family members of such cases. -Genetic cases are defined by the 50% probability that offspring will be affected. All familial cases are in this category, as are the approximately 30% which are bilateral and sporadic. In an unknown fraction of these cases, a small deletion of band 13q14 has been identified. We hypothesize that exposure to agents capable of causing parental germ cell mutations prior to conception is greatest for these cases compared to sporadic non-genetic cases or to controls. Banded chromosomes of all patients will be examined so that the true fraction of deletion cases may be identified and their characteristics compared to non-deletion cases. -Non-genetic cases are always unilateral and sporadic; we hypothesize that these involve exposures during gestation or in the early postnatal period to mutagens and teratogens. This case-control study will utilize approximately 300 incident cases of RB identified over a four-year period among the 29 member institutions of the Children's Cancer Study Group. Controls will be selected by the method of random digit dialing. Interviews with parents of cases and controls will be performed by telephone and information collected concerning family history and exposures of parents and probands. Quantitation of the risk associated with specific exposures will be made by contrasting cases to age-matched regional population controls.